RPGR
Summary: This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:312610 Ensembl IDEnsembl:ENSG00000156313 HGNC IDHGNC:HGNC:10295 PHARMGKB IDPA34656 Map LocationXp11.4 | |||||
GO terms in RPGR
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0001750 | photoreceptor outer segment |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005813 | centrosome |
| CC | ISS | GO:0036064 | ciliary basal body |
| CC | ISS | GO:0036126 | sperm flagellum |
Gene expression in normal tissue: RPGR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RPGR
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD398 | Sepantronium | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RPGR
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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